“Her head was misshapen, her eyes were very, very large, and very bulging.”
Kathrina’s parents were not encouraged by what the doctor told them.
“He said the challenge we have is that she’s incompatible with life. And your first reaction is - you have to process that response - and then you do and the you go, oh,” said Paul Goodwin, Kathrina’s dad.
Kathrina has Marshall-Stickler syndrome, an extremely rare condition characterized by a flat face, enormous eyes, and a skull too small for her developing brain. The bigger she gets, the less oxygen her brain gets.
“It’s a problem of the bone itself. The bone matures faster and so it just doesn’t grow as well as you usually have in a normally developing child,” said Dr. Richard Hopper, Clinical Surgical Director of the Craniofacial Program at Seattle’s Children’s Hospital.
Symptoms worsen with age and include a lack of muscle tone.
Paul and Tamara worry their youngest child will become physically and mentally impaired, socially withdrawn and lifeless.
“She didn’t really have much of a personality until she could get up and move around and interact,” said Paul.
Kathrina’s diagnosis of Marshall-Stickler syndrome, comes out of the blue for the Goodwins. No one else in the family shows any signs of it.
“It’s not unusual for someone with Marshall-Sticker syndrome ï¿½ a very rare syndrome to have no family history whatsoever,” said Dr. Hopper.
Through the years, the Goodwins have accepted and embraced Kathrina’s condition.
Their child is already the veteran of numerous operations. So many, Tamara and Paul have lost count.
“Two major surgeries. She’s had her skull reconstructed or remodeled at six months. And that was the hardest one because she was only six months and it was our first major one so you don’t know what to expect. And then she had a cleft palate repair at 18 months of age,” said Tamara.
Needless to say, coping with Kathrina’s problems has made life a roller coaster ride for the Goodwins.
“You would go up with the roller coaster, down with the roller coaster. What we finally decided to do was not worry about how she was going to be like when she’s 35, but how she’s going to be tomorrow and the next day and just deal with each day at a time. And so far that’s worked out pretty well,” said Paul.
So far it has worked out, but day by day, Kathrina’s problems increase. A flat forehead and insufficient cheekbones provide no protection for Kathrina’s eyes. She has trouble breathing, hearing and communicating.
Her mother often serves as a translator for those who don’t understand Kathrina’s speech.
And if that weren’t enough, Kathrina has trouble seeing. She had cataract surgery, and has glaucoma.
“She’s legally blind, but you’d never know it by the way she moves around. Nothing seems to get in her way,” said Paul.
Despite her many challenges, this little girl is a lovable dynamo.
Doctors are recommending a revolutionary procedure for Kathrina that could alleviate many of her problems. But it’s dangerous, even life-threatening, for any patient, especially a little girl so young.
The ideal time to do the surgery is after a child stops growing. That’s not an option for Kathrina.
“We can’t wait that long, she’s not breathing when she’s sleeping, she’s not growing a nose, If I felt I could wait a year or two years, I would like to wait. I just can’t in Kathrina’s case,” said Dr. Hopper.
It’s a road no parent wants to travel. But the Goodwins know there is no other choice. Not if Kathrina is to have a chance at a more normal life.
Still they have haunting doubts about the surgery and how it might permanently change the daughter they love so much.
“Were we concerned it might change her personality. Yeah, absolutely,” said Paul.
“If you have to do multiple operations—one after another—a child’s spirit can just gradually start to crumble and that’s a terrible thing to see,” said Dr. Hopper.
» Part 2:The Face of An Infant